KEGG   DISEASE: Heart and brain malformation syndrome
Entry
H02364                      Disease                                
Name
Heart and brain malformation syndrome
Description
Heart and brain malformation syndrome (HBMS) is a multiple congenital anomaly syndrome, characterized by craniofacial dysmorphism, congenital heart disease, and brain malformation. Mutations in SMG9, encoding an essential component of nonsense-mediated decay (NMD) machinery, cause this disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02364  Heart and brain malformation syndrome
Gene
SMG9 [HSA:56006] [KO:K18735]
Other DBs
ICD-11: LD2F.1Y
OMIM: 616920
Reference
PMID:27018474
  Authors
Shaheen R, Anazi S, Ben-Omran T, Seidahmed MZ, Caddle LB, Palmer K, Ali R, Alshidi T, Hagos S, Goodwin L, Hashem M, Wakil SM, Abouelhoda M, Colak D, Murray SA, Alkuraya FS
  Title
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
  Journal
Am J Hum Genet 98:643-52 (2016)
DOI:10.1016/j.ajhg.2016.02.010
LinkDB

» Japanese version

DBGET integrated database retrieval system